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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APEH Gene

protein-coding   GIFtS: 62
GCID: GC03P049711

Acylaminoacyl-Peptide Hydrolase

(Previous name: N-acylaminoacyl-peptide hydrolase)
(Previous symbols: D3F15S2, DNF15S2, D3S48E)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acylaminoacyl-Peptide Hydrolase1 2     AARE2 3
D3S48E1 2 3 5     APH2 3
D3F15S21 2 3     OPH2 3
DNF15S21 2 3     EC 3.4.19.13 8
N-Acylaminoacyl-Peptide Hydrolase1 2     ACPH2
acylaminoacyl-peptidase1 2     Acylamino-Acid-Releasing Enzyme2
Acyl-Peptide Hydrolase2 3     Acylaminoacyl-peptidase3
Oxidized Protein Hydrolase2 3     

External Ids:    HGNC: 5861   Entrez Gene: 3272   Ensembl: ENSG000001640627   OMIM: 1026455   UniProtKB: P137983   

Export aliases for APEH gene to outside databases

Previous GC identifers: GC03U990008 GC03M048683 GC03P049565 GC03P049670 GC03P049686


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APEH Gene:
This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated
amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is
further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same
region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a
decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each
subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged
proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small
cell lung carcinoma and renal cell carcinoma. (provided by RefSeq, Jul 2008)

GeneCards Summary for APEH Gene: 
APEH (acylaminoacyl-peptide hydrolase) is a protein-coding gene. Diseases associated with APEH include barbiturate dependence, and high pressure neurological syndrome. GO annotations related to this gene include serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798
Function: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to
generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala,
Ac-Met and Ac-Ser

Gene Wiki entry for APEH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APEH gene promoter:
         SREBP-1c   CUTL1   LCR-F1   SREBP-1b   Max   FOXI1   SREBP-1a   SEF-1 (1)   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPEH promoter sequence
   Search SABiosciences Chromatin IP Primers for APEH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APEH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

APEH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APEH gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P049711:  view genomic region     (about GC identifiers)

Start:
49,711,435 bp from pter      End:
49,721,396 bp from pter
Size:
9,962 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798 (See protein sequence)
Recommended Name: Acylamino-acid-releasing enzyme  
Size: 732 amino acids; 81225 Da
Subunit: Homotetramer
Subcellular location: Cytoplasm
Mass spectrometry: Mass=81269.9; Mass_error=8.7; Method=Electrospray; Range=1-732; Source=PubMed:10395453;
Sequence caution: Sequence=AAA35769.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q9BQ33 Q9P0Y2

Explore the universe of human proteins at neXtProt for APEH: NX_P13798

Explore proteomics data for APEH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13798

  • 4/18 DME Specific Peptides for APEH (P13798) (see all 18)
     LKVGFLP  VPRQLGE  GGKCELLSD  GSWKLLTID 

    APEH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APEH Protein Expression
    REFSEQ proteins: NP_001631.3  
    ENSEMBL proteins: 
     ENSP00000296456   ENSP00000414369   ENSP00000410149   ENSP00000402365   ENSP00000415862  
     ENSP00000401871   ENSP00000410366   ENSP00000404353   ENSP00000438180  

    Human Recombinant Protein Products for APEH: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APEH 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0031965nuclear membrane IDA--

    APEH for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for APEH 
    Cloud-Clone Corp. CLIAs for APEH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001375 Peptidase_S9
     IPR004106 Peptidase_S9A_B_C_N
     IPR002471 Pept_S9_AS
     IPR011042 6-blade_b-propeller_TolB-like

    Graphical View of Domain Structure for InterPro Entry P13798

    ProtoNet protein and cluster: P13798

    1 Blocks protein domain: IPB002471 Prolyl endopeptidase

    UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798
    Similarity: Belongs to the peptidase S9C family


    APEH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACPH_HUMAN, P13798
    Function: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to
    generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala,
    Ac-Met and Ac-Ser
    Catalytic activity: Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide

         Genatlas biochemistry entry for APEH:
    N-acylaminoacyl-peptide hydrolase,with reduced expression in renal cell carcinoma (see D3F15S2,D3S94,TSG3C),highly
    homolog to the tightly linked MST1 gene

         Enzyme Number (IUBMB): EC 3.4.19.11 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0008236serine-type peptidase activity ----
    GO:0016787hydrolase activity ----
         
    APEH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for APEH:
     Decreased homologous recombina  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for APEH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APEH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APEH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for APEH (P137982, 3 ENSP000002964564) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IST1P539902, 3, ENSP000003304084MINT-68393 I2D: score=5 STRING: ENSP00000330408
    UBA5Q9GZZ92, 3, ENSP000003485654MINT-67134 I2D: score=5 STRING: ENSP00000348565
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    MCCP235083, ENSP000003862274I2D: score=1 STRING: ENSP00000386227
    SHBGP042783, ENSP000003698164I2D: score=2 STRING: ENSP00000369816
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    APEH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APEH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APEH (ACPH)

    10/19 Novoseek inferred chemical compound relationships for APEH gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraoxon 91.9 28 15642457 (3), 11753944 (2), 15294802 (2), 20138483 (1) (see all 21)
    diisopropylfluorophosphate 78.3 17 10719179 (3), 10731698 (3), 11921441 (1), 20441875 (1) (see all 6)
    methylparathion 75.4 4 16489921 (1), 11544037 (1), 14991648 (1), 15294802 (1)
    sarin 73.9 5 14985944 (2), 15033522 (1), 15888665 (1), 10421455 (1)
    coumaphos 73.7 3 16292554 (2), 15741066 (1)
    soman 71.9 3 15033522 (1), 14985944 (1), 10421455 (1)
    p-nitrophenol 67.1 5 17139155 (1), 17616234 (1), 11544037 (1), 14991648 (1) (see all 5)
    parathion 64.8 3 17139155 (1), 11544037 (1), 11118318 (1)
    chlorpyrifos 42.3 2 15888665 (1), 15294802 (1)
    serine 31.3 7 17241160 (2), 10719179 (1), 20221871 (1), 10731698 (1)

    Search CenterWatch for drugs/clinical trials and news about APEH / ACPH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for APEH gene: 
    NM_001640.3  

    Unigene Cluster for APEH:

    N-acylaminoacyl-peptide hydrolase
    Hs.517969  [show with all ESTs]
    Unigene Representative Sequence: BC000362
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296456(uc010hkw.1 uc003cxf.3) ENST00000449966 ENST00000483715
    ENST00000446089 ENST00000491799 ENST00000442186 ENST00000438011 ENST00000463995
    ENST00000462439 ENST00000447436 ENST00000463616 ENST00000457042 ENST00000447541
    ENST00000482301 ENST00000469362 ENST00000480772
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
    Products:
         
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    GenScript: all cDNA clones in your preferred vector: APEH (NM_001640)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APEH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APEH
    Sirion Biotech Customized lentivirus for stable overexpression of APEH 
                         Customized lentivirus expression plasmids for stable overexpression of APEH 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APEH

    Additional mRNA sequence: 

    AF141383.1 AK314962.1 BC000362.2 BC001499.2 BC001826.2 D38441.1 

    24/41 DOTS entries (see all 41):

    DT.85104237  DT.120904094  DT.95251572  DT.102840613  DT.120904071  DT.100828706  DT.120904126  DT.120904130 
    DT.120904428  DT.100045156  DT.100828712  DT.120904104  DT.92457317  DT.100828704  DT.102840617  DT.120904718 
    DT.100828708  DT.102840609  DT.95251481  DT.100828705  DT.120904208  DT.95251445  DT.120904784  DT.120904334 

    24/633 AceView cDNA sequences (see all 633):

    AA378142 AI252227 BE396891 BE884406 BU183602 BU552844 BQ221600 BE251353 
    CD107175 CD368467 AW467944 BM014171 BF922731 AL524323 CA454325 AW662688 
    CF139347 BM745745 BQ063344 BE646308 BF344645 BG032203 AL583329 CA391512 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for APEH (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
    SP1:                                                                                                                          -                             -   
    SP2:                                                                                                                    -     -     -                       -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                      -                                                                                                                     

    ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for APEH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APEH expression in normal human tissues (normalized intensities)      APEH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGATCAG
    APEH Expression
    About this image


    APEH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See APEH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APEH

    SOURCE GeneReport for Unigene cluster: Hs.517969
        SABiosciences Custom PCR Arrays for APEH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APEH gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apeh1 , 5 acylpeptide hydrolase1, 5 89.16(n)1
    91.39(a)1
      9 (59.07 cM)5
    2356061  NM_146226.21  NP_666338.21 
     1080854175 
    chicken
    (Gallus gallus)
    Aves APEH1 N-acylaminoacyl-peptide hydrolase 69.84(n)
    65.38(a)
      415926  NM_001030585.1  NP_001025756.1 
    lizard
    (Anolis carolinensis)
    Reptilia APEH6
    N-acylaminoacyl-peptide hydrolase
    66(a)
    1 ↔ 1
    2(149568679-149591774)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.70362 Transcribed sequence with weak similarity to protein more 71.15(n)    BG886239.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apeh2 acylpeptide hydrolase 73.17(n)   321028  BC048895.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R11E3.83
    dpf-51
    Protein DPF-51 33(a)3
    46.01(n)1
    36.02(a)1
      IV(4803026-4806763)3
    1772511  NM_068246.51  NP_500647.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G145701 acylaminoacyl-peptidase 45.43(n)
    36.29(a)
      827104  NM_117537.3  NP_193193.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g04158001 hypothetical protein 44.63(n)
    36.97(a)
      4348628  NM_001071138.1  NP_001064603.1 


    ENSEMBL Gene Tree for APEH (if available)
    TreeFam Gene Tree for APEH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/338 SNPs in APEH are shown (see all 338)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428277981,2
    --49641548(+) TCTTCA/TTTTTA 1 -- us2k10--------
    rs763830091,2
    C--49641893(+) TTTTTC/TTTGAG 1 -- us2k10--------
    rs124969241,2
    H--49642285(+) ccattC/Ttcctg 1 -- us2k10--------
    rs67678781,2
    C,F,A,H--49642310(+) gtaacT/Agggac 1 -- us2k14Minor allele frequency- A:0.38NA 8
    rs130935251,2
    C--49642409(+) CCTGAG/CCTCGT 1 -- us2k14Minor allele frequency- C:0.00NA 8
    rs130933851,2
    C,F--49642444(+) agtgcA/Tgggat 1 -- us2k15Minor allele frequency- T:0.42NA 12
    rs1895446261,2
    --49642552(+) GGCTGA/TTGGGA 1 -- us2k10--------
    rs1807411411,2
    C--49642563(+) AAGGGA/GAAGCT 1 -- us2k10--------
    rs1509021781,2
    --49642633(+) CTGAAC/TGTGGA 1 -- us2k10--------
    rs1148388571,2
    C,F--49642860(+) AGGGAC/TCCACC 1 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for APEH (49711435 - 49721396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for APEH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820990CNV Duplication20802225
    nsv508217CNV Loss20534489
    esv28815CNV Gain+Loss19812545

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 102645    OMIM disorders: --

    20/24 diseases for APEH (see all 24):    About MalaCards
    barbiturate dependence    high pressure neurological syndrome    placenta praevia    renal cell carcinoma
    sclerosing cholangitis    primary sclerosing cholangitis    placental abruption    cholangitis
    pharyngitis    primary biliary cirrhosis    cholestasis    acute pancreatitis
    tonsillitis    hypertrophic cardiomyopathy    lung cancer    blindness
    crohn's disease    liver disease    osteosarcoma    neuroblastoma

    5 diseases from the University of Copenhagen DISEASES database for APEH:
    Placenta praevia     High pressure neurological syndrome     Barbiturate dependence     Hypertrophic cardiomyopathy
    Placental abruption

    APEH for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for APEH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    poisoning 22.7 3 12857941 (1), 14985944 (1), 15888665 (1)
    small cell lung cancer 21 2 8724851 (1), 1655021 (1)
    cholestasis 13.9 2 10925723 (1), 8210624 (1)
    immunodeficiency 7.57 4 1525395 (1), 8347129 (1), 2241099 (1), 1525334 (1)
    tumors 2.05 1 1655021 (1)
    intoxication 0 1 12857941 (1)
    carcinoma 0 1 1328432 (1)
    carcinoma renal cell 0 4 1861871 (2), 1655021 (1)

    Genetic Association Database (GAD): APEH
    Human Genome Epidemiology (HuGE) Navigator: APEH (2 documents)

    Export disorders for APEH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for APEH gene, integrated from 9 sources (see all 138):
    (articles sorted by number of sources associating them with APEH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of oxidized protein hydrolase of human erythrocytes as acylpeptide hydrolase. (PubMed id 10719179)1, 2, 9 Fujino T.... Yasuda H. (2000)
    2. Genetic relationship between acylpeptide hydrolase and acylase, two hydrolytic enzymes with similar binding but different catalytic specificities. (PubMed id 2006156)1, 2, 9 Jones W.M....Manning J.M. (1991)
    3. The nucleotide sequence of human acylamino acid-releasing enzyme. (PubMed id 8724851)1, 2, 9 Mitta M.... Tsunasawa S. (1996)
    4. The gene from the short arm of chromosome 3, at D3F15S2, frequently deleted in renal cell carcinoma, encodes acylpeptide hydrolase. (PubMed id 1861871)1, 2, 9 Erlandsson R.... Joernvall H. (1991)
    5. Acylpeptide hydrolase: inhibitors and some active site residues of the human enzyme. (PubMed id 1740429)1, 2, 9 Scaloni A.... Manning J.M. (1992)
    6. Crystallization and preliminary X-ray studies of human erythrocyte acylpeptide hydrolase. (PubMed id 8411161)1, 2, 9 Feese M.... Remington S.J. (1993)
    7. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1, 4 Anderson C.A....Rioux J.D. (2011)
    8. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Structural investigations on human erythrocyte acylpeptide hydrolase by mass spectrometric procedures. (PubMed id 10395453)1, 2 Scaloni A....Manning J.M. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 327 HGNC: 586 AceView: APEH Ensembl:ENSG00000164062 euGenes: HUgn327
    ECgene: APEH H-InvDB: APEH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for APEH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APEH Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for APEH gene:
    Search GeneIP for patents involving APEH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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